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Autoinflammatory diseases in childhood, part 2: polygenic syndromes

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Abstract

Autoinflammatory diseases are a family of disorders characterized by aberrant stimulation of inflammatory pathways without involvement of antigen-directed autoimmunity. They can be further divided in monogenic and polygenic types. Those without an identified genetic mutation are known as polygenic and include systemic-onset juvenile idiopathic arthritis, idiopathic recurrent acute pericarditis, Behçet syndrome, chronic recurrent multifocal osteomyelitis and inflammatory bowel disease among others. Autoinflammatory diseases are characterized by recurrent flares or persistent systemic inflammation and fever, as well as lymphadenopathy and cutaneous, abdominal, thoracic and articular symptoms. Although these syndromes can mimic infections clinically, the inflammatory lesions in autoinflammatory disorders are aseptic. However, because of their infrequency, varied and nonspecific presentation, and the new genetic identification, diagnosis is usually delayed. In this article, which is Part 2 of a two-part series, the authors review the main polygenic autoinflammatory diseases that can be seen in childhood, with special emphasis wherever applicable on imaging features that may help establish the correct diagnosis. However, the major role of imaging is to delineate organ involvement and disease extent.

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Authors and Affiliations

  1. Department of Radiology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat, Barcelona, Spain

    María Navallas, Emilio J. Inarejos Clemente & Mónica Rebollo-Polo

  2. Department of Medical Imaging, University of Toronto, Toronto, ON, Canada

    María Navallas & Oscar M. Navarro

  3. Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada

    María Navallas & Oscar M. Navarro

  4. Department of Rheumatology, Hospital Sant Joan de Déu, Barcelona, Spain

    Estíbaliz Iglesias & Joan Calzada Hernández

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  1. María Navallas
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  2. Emilio J. Inarejos Clemente
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  3. Estíbaliz Iglesias
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  4. Mónica Rebollo-Polo
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  5. Joan Calzada Hernández
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  6. Oscar M. Navarro
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Correspondence to María Navallas.

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Navallas, M., Inarejos Clemente, E.J., Iglesias, E. et al. Autoinflammatory diseases in childhood, part 2: polygenic syndromes. Pediatr Radiol 50, 431–444 (2020). https://doi.org/10.1007/s00247-019-04544-9

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